Article
Somatic mutations in VEXAS Syndrome and Erdheim-Chester disease: Inflammatory myeloid diseases.
Seminars in hematology - 1 Jul 2022
Alcedo Pedro E, Gutierrez-Rodrigues Fernanda, Patel Bhavisha A
Abstract excerpt
Somatic mutations have been increasingly identified as etiologic for many hematologic and autoinflammatory disorders. VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome and Erdheim-Chester disease (ECD), a type of histiocytosis, can be classified as inflammatory myeloid diseases, characterized by systemic inflammation and multi-organ disease with predisposition to myeloid malignancies....
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